RUNX2 c.433_435delinsTAA ;(p.L145*)

Variant ID: 6-45399609-CTC-TAA

NM_001024630.3(RUNX2):c.433_435delinsTAA;(p.L145*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Zinc and the iron donor frataxin regulate oligomerization of the scaffold protein to form new Fe-S cluster assembly centers.

Metallomics : Integrated Biometal Science
Galeano, B K BK; Ranatunga, W W; Gakh, O O; Smith, D Y DY; Thompson, J R JR; Isaya, G G
Publication Date: 2017-06-21

Variant appearance in text: CCD: L145*
PubMed Link: 28548666
Variant Present in the following documents:
  • Main text
View BVdb publication page